Associated Papers
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.
Giorgio E et al.
American Journal of Medical Genetics. Part A, 2019
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.
Turner EM et al.
Rare Diseases (austin, Tex.), 2016
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
Hoffmann K et al.
Nature Genetics, 2002
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